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Allele frequency distribution of clinically relevant pharmacogenetic variants across European populations: A Scoping Review

2025-10-02Documento de conferência Acesso restrito
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datacite.subject.fosCiências Médicas
dc.contributor.authorSimões, Raquel D.
dc.contributor.authorCardoso, Maria L.
dc.contributor.authorMartiniano, Hugo F. M. C.
dc.contributor.authorVicente, Astrid M.
dc.date.accessioned2026-03-02T14:30:07Z
dc.date.available2026-03-02T14:30:07Z
dc.date.issued2025-10-02
dc.description.abstractReview of the literature on the distribution of pharmacogenetic variants in European populations.. Pharmacogenetics (PGx) is the study of how genetic variants affect drug metabolism, transport and target interactions, impacting efficacy and risk of adverse reactions. PGx variants can affect either pharmacokinetics – the processes of drug absorption, distribution, metabolism and elimination of drugs -or pharmacodynamics - the biochemical and physiological effects of drugs and their mechanisms of action. Pharmacokinetics gene variants often define haplotypes, which are described using the star (*) allele nomenclature for genes such as those in the Cytochrome P450 (CYP450) family. This results in phenotypes of normal, rapid, ultrarapid or poor metabolisers, leading to various drug responses 1. In recognition of the importance of understanding the clinical impact of PGx variants, the Clinical Pharmacogenetics Implementation Consortium (CPIC) has developed guidelines that translate PGx test results into clinical recommendations for drug dosing 2. Reports in the literature of ancestrality differences in drug response highlight the need for a broader investigation of PGx variants, namely in CYP450 genes, across diverse groups.eng
dc.description.sponsorshipWork supported by UID/04046/2023 - Biosystems and Integrative Sciences Institute Centre grant from FCT, Portugal, by a PhD fellowship reference, 2024.06461.BDANA from FCT – Fundação para a Ciência e a Tecnologia, I.P., and by European Union’s Digital Europe Program (grant agreement #101168231)
dc.identifier.urihttp://hdl.handle.net/10400.18/11005
dc.language.isoeng
dc.peerreviewedn/a
dc.rights.uriN/A
dc.subjectFarmacogenética
dc.subjectPopulações Europeias
dc.subjectFrequências Alélicas
dc.subjectAllele Frequency Distribution
dc.subjectEurope
dc.titleAllele frequency distribution of clinically relevant pharmacogenetic variants across European populations: A Scoping Revieweng
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferenceDate2025-10-02
oaire.citation.conferencePlaceLisbon, Portugal
oaire.citation.titleBioISI Day'25, Instituto de Biossistemas e Ciências Integrativas, 2 outubro 2025
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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